Ophthalmological findings in a patient with mucolipidosis III (pseudo-hurler polydystrophy). A case report

Autor:	Pourjavan, S., Fryns, J. P., van Hove, J. L. K., Poorthuis, B. J. H. M., Casteels, I.
Přispěvatelé:	Other departments
Jazyk:	angličtina
Rok vydání:	2002
Předmět:	congenital hereditary and neonatal diseases and abnormalities nutritional and metabolic diseases sense organs skin and connective tissue diseases eye diseases
Zdroj:	Bulletin de la Societe belge d ophtalmologie, 2002(286), 19-24. Societe Belge d'Ophtalmologie
ISSN:	0081-0746
Popis:	Mucolipidosis III (Pseudo-Hurler Polydystrophy) is a rare autosomal recessively inherited Hurler-like disease. The ophthalmological findings in these patients include a triad of mild retinopathy, corneal clouding and hyperopic astigmatism. We present a patient with these ophthalmological characteristics
Databáze:	OpenAIRE
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